ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) (rs1247378731)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672395 SCV000797494 likely pathogenic Fanconi anemia, complementation group A 2018-01-26 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000672395 SCV000889967 pathogenic Fanconi anemia, complementation group A 2017-06-22 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000672395 SCV001425824 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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